Evaluation of a rapid LC-MS/MS method to measure simultaneously IDUA and IDS enzymes activities in dried blood spots

A novel and rapid LC-MS/MS method was developed to simultaneously measure the activities of lysosomal enzymes for newborn screening. Mucopolysaccharidoses (MPSs) is a group in lysosomal storage disorders (LSDs) caused by a deficiency of lysosomal hydrolases responsible for the catabolism of glycosaminoglycans (GAGs). Some techniques such as fluorometric and mass spectrometric assays have been developed to measure these enzyme activities for the purpose of newborn screening.The use of mass spectrometric techniques has exhibited advantages over the other techniques in the ability to multiplex several enzymes in one assay. In this study, we report a novel method using tandem mass spectrometry that is capable of simultaneous measurement of the activities of the MPS enzymes including IDUA (MPS I) and IDS (MPS II) in a short time scale. In this presentation, the developed method is detailed.

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Document Number:
ASMS 2020 - ThP 039
Product Type:
Liquid Chromatography Mass Spectrometry
Life Science Solutions, LCMS-8050 Triple Quadrupole Liquid Chromatograph Mass Spectrometer (LC-MS/MS)
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